Genetics of Cancer Risk in Patients with Congenital Heart Disease

Age-adjusted risk for cancer in patients with congenital heart disease (CHD) reportedly is as much as twofold higher than that in the general population. In this case-control study, researchers examined whether damaging gene variants contributed to excess cancer risk in 4443 patients with CHD compared with 9808 unaffected individuals.

So-called “loss-of-function” (LOF) variants in regulatory cancer-risk genes were significantly more common in patients with CHD than in those without CHD (3.2% vs. 1.7%). The prevalence of LOF variants was particularly high in patients with both CHD and extracardiac anomalies and in those with concomitant neurodevelopmental delay.